Linked Data
ClinVar Variation Id:
303965
dbSNP Id:
rs574250591
gnomAD v2:
11-1940829-C-G
gnomAD v3:
11-1919599-C-G
gnomAD v4:
11-1919599-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1919599C>G , CM000673.2:g.1919599C>G | GRCh38 |
| NC_000011.9:g.1940829C>G , CM000673.1:g.1940829C>G | GRCh37 |
| NC_000011.8:g.1897405C>G | NCBI36 |
| NG_013085.1:g.5031C>G | |
| NG_013085.2:g.5031C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278317.10:c.-182C>G | ENSP00000278317.6:n.-182C>G | |
| NM_001042780.2:c.-182C>G | NP_001036245.1:n.-182C>G | |
| NM_001042781.2:c.-182C>G | NP_001036246.1:n.-182C>G | |
| NM_001042782.2:c.-182C>G | NP_001036247.1:n.-182C>G | |
| NM_001297646.1:c.-440C>G | NP_001284575.1:n.-440C>G | |
| NM_006757.3:c.-182C>G | NP_006748.1:n.-182C>G | |
| XM_006718290.2:c.-182C>G | XP_006718353.1:n.-182C>G | |
| XM_006718291.2:c.-182C>G | XP_006718354.1:n.-182C>G | |
| XM_006718293.1:c.-182C>G | XP_006718356.1:n.-182C>G | |
| XM_006718294.2:c.-182C>G | XP_006718357.1:n.-182C>G | |
| XM_006718301.2:c.-182C>G | XP_006718364.1:n.-182C>G | |
| XM_011520342.1:c.-182C>G | XP_011518644.1:n.-182C>G | |
| NM_001363561.1:c.-182C>G | NP_001350490.1:n.-182C>G | |
| XM_006718294.3:c.-182C>G | XP_006718357.1:n.-182C>G | |
| XM_017018205.1:c.-182C>G | XP_016873694.1:n.-182C>G | |
| XM_017018206.1:c.-19+26C>G | XP_016873695.1:n.-19+26C>G | |
| XM_017018207.1:c.-19+26C>G | XP_016873696.1:n.-19+26C>G | |
| XM_017018209.1:c.-19+26C>G | XP_016873698.1:n.-19+26C>G | |
| XM_017018211.1:c.-19+26C>G | XP_016873700.1:n.-19+26C>G | |
| XM_024448669.1:c.-19+26C>G | XP_024304437.1:n.-19+26C>G |